title: A new pair of HLA-C alleles, Cw*12042 and Cw*1203, differing at the KIR-related dimorphism of codons 77-80.
abstract: A previously unknown HLA-C variant of the Cw*12 group was identified by PCR-SSP from genomic DNA of cell NDS-JD. Molecular cloning and nucleotide sequence analysis permitted the characterization of the complete coding region of this new allele, Cw*12042. The new variant differs from the recently reported Cw*12041 by two silent changes at exons 2 and 3, and from Cw*1203 by coding changes at codons 77 and 80. Cw*1203 (Ser-Asn) and Cw*12042 (Asn-Lys) constitute the second known example of HLA-C alleles only differing at the KIR-related dimorphism of residues 77-80. The new allele is associated in cell NDS-JD with the haplotype HLA-A*2403, Cw*12042, B*51, DRB1*1502, DRB5*0102, DQB1*0601, possibly related from the evolutionary aspect to the ancestral haplotype A*2402, Cw*1202, B*5201, DRB1*1502, DRB5*0102, DQB1*0601.
authors.affiliation: Servicio de Inmunología, Clínica Puerta de Hierro, Madrid, Spain. cvilches@inmuno.cph.es
authors.forename: C
authors.initials: C
authors.lastname: Vilches
authors.forename: M
authors.initials: M
authors.lastname: Bunce
authors.forename: M
authors.initials: M
authors.lastname: van Dam
authors.forename: R
authors.initials: R
authors.lastname: de Pablo
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D018076:DNA, Complementary; D005006:Ethnicity; D015236:HLA-C Antigens / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: D003062:Codon; D018076:DNA, Complementary; D015236:HLA-C Antigens; C110748:HLA-C*12 antigen